Product Name
ATPAF2, cDNA Clone
Full Product Name
ATPAF2 cDNA Clone
Product Gene Name
ATPAF2 cdna clone
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Sequence
atgtggagga gctgcctccg gctgcgggac gggggacgcc gtctcctgaa tcggccggcg ggtggcccca gcgcttctat gagtccgggg ccaaccatcc cgtctccagc ccgggcttac gccccgccga cagaaaggaa gaggttttat cagaatgtca gcatcacaca gggtgaaggt ggctttgaga taaacctgga ccacaggaag ctgaaaactc cccaagccaa gctctttacc gtccccagcg aggccctggc cattgcagtg gctactgagt gggattccca gcaggatacc atcaagtact acaccatgca cctgaccaca ttgtgcaaca catcattgga caacccaacc cagagaaaca aggatcagct gatccgggca gccgtgaagt ttctggacac cgacaccatc tgctacaggg tggaggagcc cgagacatta gtggaacttc aaaggaatga gtgggatcca atcatcgaat gggctgagaa aagatacggc gtggagatca gctcctccac cagcataatg ggacccagca tccctgccaa aactcgggag gtgctcgtca gccacctggc atcttacaac acatgggctt tacaagggat tgagtttgta gctgcccagc tcaagtccat ggtgctaacc ttgggcctga ttgacctgcg cctgacagtg gagcaggccg tgctgctgtc acgcctggag gaggagtacc agatccagaa gtggggcaac attgagtggg cccatgacta tgagctgcag gagctgcggg cccgcaccgc cgccggcacc ctcttcatcc atctctgctc cgagagcacc acagtcaagc acaagctcct gaaggagtga
Clone Sequence Report
Provided with product shipment
ISO Certification
Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.
Other Notes
Small volumes of ATPAF2 cdna clone vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
NCBI/Uniprot data below describe general gene information for ATPAF2. It may not necessarily be applicable to this product.
NCBI Accession #
BC004114
[Other Products]
UniProt Secondary Accession #
Q6XYC7; A6NDE5; A8K2J2[Other Products]
UniProt Related Accession #
Q8N5M1[Other Products]
Molecular Weight
32,772 Da
NCBI Official Full Name
Homo sapiens ATP synthase mitochondrial F1 complex assembly factor 2, mRNA
NCBI Official Synonym Full Names
ATP synthase mitochondrial F1 complex assembly factor 2
NCBI Official Symbol
ATPAF2 [Similar Products]
NCBI Official Synonym Symbols
ATP12; ATP12p; LP3663; MC5DN1
[Similar Products]
NCBI Protein Information
ATP synthase mitochondrial F1 complex assembly factor 2
UniProt Protein Name
ATP synthase mitochondrial F1 complex assembly factor 2
UniProt Synonym Protein Names
ATP12 homolog
Protein Family
ATP synthase mitochondrial F1 complex assembly factor
UniProt Gene Name
ATPAF2 [Similar Products]
UniProt Synonym Gene Names
ATP12 [Similar Products]
UniProt Entry Name
ATPF2_HUMAN
NCBI Summary for ATPAF2
This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. This gene is located within the Smith-Magenis syndrome region on chromosome 17. An alternatively spliced transcript variant has been described, but its
biological validity has not been determined. [provided by RefSeq, Jul 2008]
UniProt Comments for ATPAF2
ATPAF2: May play a role in the assembly of the F1 component of the mitochondrial ATP synthase (ATPase). Defects in ATPAF2 are a cause of mitochondrial complex V deficiency nuclear type 1 (MC5DN1). A mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid. Belongs to the ATP12 family.
Protein type: Mitochondrial
Chromosomal Location of Human Ortholog: 17p11.2
Cellular Component: cytoplasm; nuclear speck
Molecular Function: protein binding
Disease: Mitochondrial Complex V (atp Synthase) Deficiency, Nuclear Type 1
Research Articles on ATPAF2
1. Two possible dementia susceptibility genes including ATPAF2 and TOM1L2 near SREBF1 locus were identified.
Precautions
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Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.
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